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Article

Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.

PloS one - 1 Jan 2022

Lei Peiliang, Zhu Qingwen, Dong Wenrong, Zhang Siqi, Sun Yanyan, Du Xitong, Geng Meng, Jiang Yuan

Abstract excerpt

BACKGROUND: Hearing loss is considered one of the most common sensory nervous system defects, about 60% of which are caused by genetic factors. Mutations in the GSDME gene are responsible for post-lingual, progressive, autosomal dominant hearing loss. This study aimed to characterize the genetic mutations and clinical features of a Chinese GSDME family. METHODS: After clinical evaluations, high-throughput DNA...

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Identifiers

PMID: 36350814
DOI: 10.1371/journal.pone.0276233
PMCID: PMC9645625

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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